DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

Semantic type

Disease Class

Type

HPO Term

DO Class

CUI	Disease	Type	Disease Class	Semantic type	DO Class	HPO Term	Num. genes
C1837249	Malformations of Cortical Development, Group II	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases	Congenital Abnormality		Abnormality of the nervous system	92